Diagnostics in skeletal muscle channelopathies

Skeletal muscle channelopathies (SMCs) are a heterogenous group of disorders, caused by mutations in skeletal ion channels leading to abnormal muscle excitability, resulting in either delayed muscle relaxation (myotonia) which characterizes non-dystrophic myotonias (NDMs), or membrane transient inac...

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Bibliographic Details
Published in:	Expert review of molecular diagnostics Vol. 23; no. 12; pp. 1175 - 1193
Main Authors:	Vicino, Alex, Brugnoni, Raffaella, Maggi, Lorenzo
Format:	Journal Article
Language:	English
Published:	England 02.12.2023
Subjects:	Channelopathies - diagnosis Channelopathies - genetics Humans Muscle, Skeletal Mutation Myotonia - diagnosis Myotonia - genetics Myotonic Disorders - genetics Paralyses, Familial Periodic Paralysis KCNJ5 SCN4A Non-dystrophic myotonia; periodic paralysis RYR1 genes CLCN1 KCNJ2
ISSN:	1473-7159, 1744-8352, 1744-8352
Online Access:	Get full text
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